Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.

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Title: Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
Authors: Harrer P; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Škorvánek M; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Kittke V; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Dzinovic I; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Borngräber F; Movement Disorder and Neuromodulation Unit, Department of Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany., Thomsen M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Mandel V; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Svorenova T; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Ostrozovicova M; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Kulcsarova K; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic., Berutti R; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Busch H; Institute of Experimental Dermatology and Institute of Cardiogenetics, University of Lübeck, Lübeck, Germany., Ott F; Institute of Experimental Dermatology and Institute of Cardiogenetics, University of Lübeck, Lübeck, Germany., Kopajtich R; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Prokisch H; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Kumar KR; Translational Neurogenomics Group, Molecular Medicine Laboratory and Neurology Department, Concord Clinical School, Concord Repatriation General Hospital, The University of Sydney, Sydney, New South Wales, Australia.; Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Mencacci NE; Ken and Ruth Davee Department of Neurology, Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA., Kurian MA; Department of Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK., Di Fonzo A; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy., Boesch S; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Kühn AA; Movement Disorder and Neuromodulation Unit, Department of Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany., Blümlein U; Department of Pediatrics, Carl-Thiem-Klinikum Cottbus, Cottbus, Germany., Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., Haslinger B; Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany., Weise D; Department of Neurology, Asklepios Fachklinikum Stadtroda, Stadtroda, Germany.; Department of Neurology, University of Leipzig, Leipzig, Germany., Jech R; Department of Neurology, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic., Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany., Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2023 Oct; Vol. 38 (10), pp. 1914-1924. Date of Electronic Publication: 2023 Jul 23.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE
Database: MEDLINE Ultimate
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Description
ISSN:1531-8257
DOI:10.1002/mds.29562